KCNQ1 c.1795-24781G>A

Variant ID: 11-2844216-G-A

NM_000218.2(KCNQ1):c.1795-24781G>A

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs163182
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Pathophysiological Role of Genetic Factors Associated With Gestational Diabetes Mellitus.

Frontiers In Physiology
Ortega-Contreras, B B; Armella, A A; Appel, J J; Mennickent, D D; Araya, J J; González, M M; Castro, E E; Obregón, A M AM; Lamperti, L L; Gutiérrez, J J; Guzmán-Gutiérrez, E E
Publication Date: 2022

Variant appearance in text: rs163182
PubMed Link: 35450164
Variant Present in the following documents:
  • Main text
  • fphys-13-769924.pdf
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Interaction of Polygenetic Variants for Gestational Diabetes Mellitus Risk with Breastfeeding and Korean Balanced Diet to Influence Type 2 Diabetes Risk in Later Life in a Large Hospital-Based Cohort.

Journal Of Personalized Medicine
Park, Sunmin S
Publication Date: 2021-11-10

Variant appearance in text: rs163182
PubMed Link: 34834527
Variant Present in the following documents:
  • Main text
  • jpm-11-01175.pdf
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Genetic Susceptibility to Gestational Diabetes Mellitus in a Chinese Population.

Frontiers In Endocrinology
Cao, Minkai M; Zhang, Le L; Chen, Ting T; Shi, Aiwu A; Xie, Kaipeng K; Li, Zhengying Z; Xu, Jianjuan J; Chen, Zhong Z; Ji, Chenbo C; Wen, Juan J
Publication Date: 2020

Variant appearance in text: rs163182
PubMed Link: 32390949
Variant Present in the following documents:
  • Main text
  • fendo-11-00247.pdf
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Blood-based analysis of type-2 diabetes mellitus susceptibility genes identifies specific transcript variants with deregulated expression and association with disease risk.

Scientific Reports
Christodoulou, Maria-Ioanna MI; Avgeris, Margaritis M; Kokkinopoulou, Ioanna I; Maratou, Eirini E; Mitrou, Panayota P; Kontos, Christos K CK; Pappas, Efthimios E; Boutati, Eleni E; Scorilas, Andreas A; Fragoulis, Emmanuel G EG
Publication Date: 2019-02-06

Variant appearance in text: rs163182
PubMed Link: 30728419
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37856.pdf
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A variant in KCNQ1 gene predicts metabolic syndrome among northern urban Han Chinese women.

Bmc Medical Genetics
Liu, Yafei Y; Wang, Chunxia C; Chen, Yafei Y; Yuan, Zhongshang Z; Yu, Tao T; Zhang, Wenchao W; Tang, Fang F; Gu, Jianhua J; Xu, Qinqin Q; Chi, Xiaotong X; Ding, Lijie L; Xue, Fuzhong F; Zhang, Chengqi C
Publication Date: 2018-08-29

Variant appearance in text: rs163182
PubMed Link: 30157802
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_652.pdf
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Influence of genetic ancestry and socioeconomic status on type 2 diabetes in the diverse Colombian populations of Chocó and Antioquia.

Scientific Reports
Chande, Aroon T AT; Rowell, Jessica J; Rishishwar, Lavanya L; Conley, Andrew B AB; Norris, Emily T ET; Valderrama-Aguirre, Augusto A; Medina-Rivas, Miguel A MA; Jordan, I King IK
Publication Date: 2017-12-07

Variant appearance in text: rs163182
PubMed Link: 29215035
Variant Present in the following documents:
  • 41598_2017_17380_MOESM1_ESM.pdf
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Common and rare exonic MUC5B variants associated with type 2 diabetes in Han Chinese.

Plos One
Chen, Guanjie G; Zhang, Zhenjian Z; Adebamowo, Sally N SN; Liu, Guozheng G; Adeyemo, Adebowale A; Zhou, Yanxun Y; Doumatey, Ayo P AP; Wang, Chuntao C; Zhou, Jie J; Yan, Wenqiang W; Shriner, Daniel D; Tekola-Ayele, Fasil F; Bentley, Amy R AR; Jiang, Congqing C; Rotimi, Charles N CN
Publication Date: 2017

Variant appearance in text: rs163182
PubMed Link: 28346466
Variant Present in the following documents:
  • Main text
  • pone.0173784.pdf
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THE DIABETES EPIDEMIC IN CHINA: AN INTEGRATED REVIEW OF NATIONAL SURVEYS.

Endocrine Practice : Official Journal Of The American College Of Endocrinology And The American Association Of Clinical Endocrinologists
Shen, Xiuhua X; Vaidya, Anand A; Wu, Shoulin S; Gao, Xiang X
Publication Date: 2016-09

Variant appearance in text: rs163182
PubMed Link: 27295015
Variant Present in the following documents:
  • Main text
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Type 2 Diabetes Risk Allele UBE2E2 Is Associated With Decreased Glucose-Stimulated Insulin Release in Elderly Chinese Han Individuals.

Medicine
Xu, Kuanfeng K; Jiang, Lin L; Zhang, Mei M; Zheng, Xuqin X; Gu, Yong Y; Wang, Zhixiao Z; Cai, Yun Y; Dai, Hao H; Shi, Yun Y; Zheng, Shuai S; Chen, Yang Y; Ji, Li L; Xu, Xinyu X; Chen, Heng H; Sun, Min M; Yang, Tao T
Publication Date: 2016-05

Variant appearance in text: rs163182
PubMed Link: 27175665
Variant Present in the following documents:
  • Main text
  • medi-95-e3604.pdf
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Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools.

Molecular Metabolism
Teo, Adrian Kee Keong AK; Gupta, Manoj K MK; Doria, Alessandro A; Kulkarni, Rohit N RN
Publication Date: 2015-09

Variant appearance in text: rs163182
PubMed Link: 26413465
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China.

Journal Of Diabetes Research
Bai, Haihua H; Liu, Haiping H; Suyalatu, Suyalatu S; Guo, Xiaosen X; Chu, Shandan S; Chen, Ying Y; Lan, Tianming T; Borjigin, Burenbatu B; Orlov, Yuriy L YL; Posukh, Olga L OL; Yang, Xiuqin X; Guilan, Guilan G; Osipova, Ludmila P LP; Wu, Qizhu Q; Narisu, Narisu N
Publication Date: 2015

Variant appearance in text: rs163182
PubMed Link: 26290879
Variant Present in the following documents:
  • Main text
  • JDR2015-613236.pdf
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Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.

Plos Genetics
Ng, Maggie C Y MC; Shriner, Daniel D; Chen, Brian H BH; Li, Jiang J; Chen, Wei-Min WM; Guo, Xiuqing X; Liu, Jiankang J; Bielinski, Suzette J SJ; Yanek, Lisa R LR; Nalls, Michael A MA; Comeau, Mary E ME; Rasmussen-Torvik, Laura J LJ; Jensen, Richard A RA; Evans, Daniel S DS; Sun, Yan V YV; An, Ping P; Patel, Sanjay R SR; Lu, Yingchang Y; Long, Jirong J; Armstrong, Loren L LL; Wagenknecht, Lynne L; Yang, Lingyao L; Snively, Beverly M BM; Palmer, Nicholette D ND; Mudgal, Poorva P; Langefeld, Carl D CD; Keene, Keith L KL; Freedman, Barry I BI; Mychaleckyj, Josyf C JC; Nayak, Uma U; Raffel, Leslie J LJ; Goodarzi, Mark O MO; Chen, Y-D Ida YD; Taylor, Herman A HA; Correa, Adolfo A; Sims, Mario M; Couper, David D; Pankow, James S JS; Boerwinkle, Eric E; Adeyemo, Adebowale A; Doumatey, Ayo A; Chen, Guanjie G; Mathias, Rasika A RA; Vaidya, Dhananjay D; Singleton, Andrew B AB; Zonderman, Alan B AB; Igo, Robert P RP; Sedor, John R JR; , ; Kabagambe, Edmond K EK; Siscovick, David S DS; McKnight, Barbara B; Rice, Kenneth K; Liu, Yongmei Y; Hsueh, Wen-Chi WC; Zhao, Wei W; Bielak, Lawrence F LF; Kraja, Aldi A; Province, Michael A MA; Bottinger, Erwin P EP; Gottesman, Omri O; Cai, Qiuyin Q; Zheng, Wei W; Blot, William J WJ; Lowe, William L WL; Pacheco, Jennifer A JA; Crawford, Dana C DC; , ; , ; Grundberg, Elin E; , ; Rich, Stephen S SS; Hayes, M Geoffrey MG; Shu, Xiao-Ou XO; Loos, Ruth J F RJ; Borecki, Ingrid B IB; Peyser, Patricia A PA; Cummings, Steven R SR; Psaty, Bruce M BM; Fornage, Myriam M; Iyengar, Sudha K SK; Evans, Michele K MK; Becker, Diane M DM; Kao, W H Linda WH; Wilson, James G JG; Rotter, Jerome I JI; Sale, Michèle M MM; Liu, Simin S; Rotimi, Charles N CN; Bowden, Donald W DW; ,
Publication Date: 2014-08

Variant appearance in text: rs163182
PubMed Link: 25102180
Variant Present in the following documents:
  • Main text
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The architecture of risk for type 2 diabetes: understanding Asia in the context of global findings.

International Journal Of Endocrinology
Abdullah, Noraidatulakma N; Attia, John J; Oldmeadow, Christopher C; Scott, Rodney J RJ; Holliday, Elizabeth G EG
Publication Date: 2014

Variant appearance in text: rs163182
PubMed Link: 24744783
Variant Present in the following documents:
  • Main text
  • IJE2014-593982.pdf
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The new perspectives on genetic studies of type 2 diabetes and thyroid diseases.

Current Genomics
Xu, Min M; Bi, Yufang Y; Cui, Bin B; Hong, Jie J; Wang, Weiqing W; Ning, Guang G
Publication Date: 2013-03

Variant appearance in text: rs163182
PubMed Link: 23997649
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

Diabetes
Saxena, Richa R; Saleheen, Danish D; Been, Latonya F LF; Garavito, Martha L ML; Braun, Timothy T; Bjonnes, Andrew A; Young, Robin R; Ho, Weang Kee WK; Rasheed, Asif A; Frossard, Philippe P; Sim, Xueling X; Hassanali, Neelam N; Radha, Venkatesan V; Chidambaram, Manickam M; Liju, Samuel S; Rees, Simon D SD; Ng, Daniel Peng-Keat DP; Wong, Tien-Yin TY; Yamauchi, Toshimasa T; Hara, Kazuo K; Tanaka, Yasushi Y; Hirose, Hiroshi H; McCarthy, Mark I MI; Morris, Andrew P AP; , ; , ; , ; Basit, Abdul A; Barnett, Anthony H AH; Katulanda, Prasad P; Matthews, David D; Mohan, Viswanathan V; Wander, Gurpreet S GS; Singh, Jai Rup JR; Mehra, Narinder K NK; Ralhan, Sarju S; Kamboh, M Ilyas MI; Mulvihill, John J JJ; Maegawa, Hiroshi H; Tobe, Kazuyuki K; Maeda, Shiro S; Cho, Yoon S YS; Tai, E Shyong ES; Kelly, M Ann MA; Chambers, John C JC; Kooner, Jaspal S JS; Kadowaki, Takashi T; Deloukas, Panos P; Rader, Daniel J DJ; Danesh, John J; Sanghera, Dharambir K DK
Publication Date: 2013-05

Variant appearance in text: rs163182
PubMed Link: 23300278
Variant Present in the following documents:
  • supp_db12-1077_DB121077SupplementaryData.pdf
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A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.

Plos One
Cui, Bin B; Zhu, Xiaolin X; Xu, Min M; Guo, Ting T; Zhu, Dalong D; Chen, Gang G; Li, Xuejun X; Xu, Lingyan L; Bi, Yufang Y; Chen, Yuhong Y; Xu, Yu Y; Li, Xiaoying X; Wang, Weiqing W; Wang, Haifeng H; Huang, Wei W; Ning, Guang G
Publication Date: 2011

Variant appearance in text: rs163182
PubMed Link: 21799836
Variant Present in the following documents:
  • Main text
  • pone.0022353.pdf
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